Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature.

Split cord malformation (SCM) is a developmental disorder that is usually symptomatic and diagnosed in childhood. The majority of these lesions are in the thoracic and lumbar spine, with only 1%-3% of cases found in the cervical spine. This is a case report of a 55-year-old female patient with an unremarkable medical history who presented with neck pain.

Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.

Background: Although stillbirth is a significant health problem worldwide, the definitive cause of death remains elusive in many cases, despite detailed autopsy. In this study of partly explained and unexplained stillbirths, we used next-generation sequencing to examine an extended panel of 35 candidate genes known to be associated with ion channel disorders and sudden cardiac death.

Methods And Results: We examined tissue from 242 stillbirths (≥22 weeks), including those where no definite cause of death could be confirmed after a full autopsy.

Increased Risk of Cerebrovascular Disease Among Patients With Neurofibromatosis Type 1: Population-Based Approach.

Background And Purpose: Although neurofibromatosis type 1 (NF1) may be associated with an incompletely understood vasculopathy, relative odds of stroke in this population is not known.

Methods: Using the 1998 to 2009 US Nationwide Inpatient Sample, we performed a case-control study matching cases of NF1 to controls without such a diagnosis. We then compared the odds of stroke between the 2 groups.

Single-Cell Expression Profiling Reveals a Dynamic State of Cardiac Precursor Cells in the Early Mouse Embryo.

In the early vertebrate embryo, cardiac progenitor/precursor cells (CPs) give rise to cardiac structures. Better understanding their biological character is critical to understand the heart development and to apply CPs for the clinical arena. However, our knowledge remains incomplete.

Clinical presentation and treatment considerations of a ruptured posterior spinal artery pseudoaneurysm.

Spinal artery pseudoaneurysms are rare vascular lesions with poorly defined natural history, diagnostic paradigms, and treatment strategies. We present a 68-year-old woman with severe back pain and left lower extremity weakness with spinal subarachnoid hemorrhage due to a ruptured T5 region posterior spinal artery pseudoaneurysm, and review issues related to radiologic diagnosis and endovascular and open neurosurgical interventions.

Common and distinct neural mechanisms of visual and tactile extinction: A large scale VBM study in sub-acute stroke.

Extinction is diagnosed when patients respond to a single contralesional item but fail to detect this item when an ipsilesional item is present concurrently. Extinction has been studied mainly in the visual modality but it occurs also in other sensory modalities (touch, audition) and hence can be considered a multisensory phenomenon. The functional and neuroanatomical relations between extinction in different modalities are poorly understood.

Neurofibromatosis type 1 and pregnancy complications: a population-based study.

Objective: The objective of the study was to determine whether vascular and other complications are more common in pregnant women with neurofibromatosis type 1 (NF1).

Study Design: We performed a population-based retrospective cohort study using the US Nationwide Inpatient Sample, 1988-2009, defining a cohort of pregnancy-related hospitalizations with an associated diagnosis of NF1 and comparing it with the control group not associated with NF1. Multivariable logistic regression was used to adjust for suspected confounders.

Genome-wide identification of Ikaros targets elucidates its contribution to mouse B-cell lineage specification and pre-B-cell differentiation.

Ikaros family DNA-binding proteins are critical regulators of B-cell development. Because the current knowledge of Ikaros targets in B-cell progenitors is limited, we have identified genes that are bound and regulated by Ikaros in pre-B cells. To elucidate the role of Ikaros in B-cell lineage specification and differentiation, we analyzed the differential expression of Ikaros targets during the progression of multipotent to lymphoid-restricted progenitors, B- and T-cell lineage specification, and progression along the B-cell lineage.

A simple and novel method for RNA-seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposase.

Background: Deep sequencing of single cell-derived cDNAs offers novel insights into oncogenesis and embryogenesis. However, traditional library preparation for RNA-seq analysis requires multiple steps with consequent sample loss and stochastic variation at each step significantly affecting output. Thus, a simpler and better protocol is desirable.

Outcomes of hospitalization in pregnant women with CNS neoplasms: a population-based study.

Managing a CNS neoplasm during pregnancy presents complex challenges, and population-based studies are lacking. We designed a retrospective cohort study using the Nationwide Inpatient Sample (NIS) to investigate pregnancy outcomes in women with CNS neoplasms. We constructed a logistic regression model for maternal mortality, preterm labor, intrauterine growth restriction (IUGR), and Caesarean delivery, controlling for age, comorbidities, and demographic characteristics.

Chemotherapy: present and future.

Vestibular schwannomas (VS) are among the most common benign tumors of the central nervous system. Bilateral VS are the hallmark of neurofibromatosis type II, commonly leading to complete deafness and cranial nerve deficits as a result of tumor progression or treatment with surgery or radiation. Effective medical therapies are needed to address tumor progression and treatment-related morbidity.

Microsurgical retrieval of an endovascular microcatheter trapped during Onyx embolization of a cerebral arteriovenous malformation.

Objective: Cerebral arteriovenous malformations (AVMs) are vascular lesions that are amenable to various treatment modalities including stereotactic radiosurgery, fractionated radiotherapy, endovascular embolization, microsurgical obliteration or combined modality treatment. A potential complication of endovascular therapy with embolization material is microcatheter entrapment. We report on a patient for whom surgery was combined with endovascular embolization to obliterate an AVM and retrieve an entrapped endovascular microcatheter.

A role for cohesin in T-cell-receptor rearrangement and thymocyte differentiation.

Cohesin enables post-replicative DNA repair and chromosome segregation by holding sister chromatids together from the time of DNA replication in S phase until mitosis. There is growing evidence that cohesin also forms long-range chromosomal cis-interactions and may regulate gene expression in association with CTCF, mediator or tissue-specific transcription factors. Human cohesinopathies such as Cornelia de Lange syndrome are thought to result from impaired non-canonical cohesin functions, but a clear distinction between the cell-division-related and cell-division-independent functions of cohesion--as exemplified in Drosophila--has not been demonstrated in vertebrate systems.

Dural scalp and intracranial hemangiomas causing hydrocephalus and venous sinus thrombosis in an infant.

Cutaneous scalp hemangiomas may herald the presence of occult intracranial hemangiomas. A previously healthy 4-month-old girl presented with a bleeding scalp hemangioma, a bulging fontanel, and anemia. Magnetic resonance imaging (MRI) of the brain revealed hydrocephalus along with multiple intracranial hemangiomas.

Embryonic stem cell-derived hemangioblasts remain epigenetically plastic and require PRC1 to prevent neural gene expression.

Many lineage-specific developmental regulator genes are transcriptionally primed in embryonic stem (ES) cells; RNA Pol(II) is bound at their promoters but is prevented from productive elongation by the activity of polycomb repressive complexes (PRC) 1 and 2. This epigenetically poised state is thought to enable ES cells to rapidly execute multiple differentiation programs and is recognized by a simultaneous enrichment for trimethylation of lysine 4 and trimethylation of lysine 27 of histone H3 (bivalent chromatin) across promoter regions. Here we show that the chromatin profile of this important cohort of genes is progressively modified as ES cells differentiate toward blood-forming precursors.

REST selectively represses a subset of RE1-containing neuronal genes in mouse embryonic stem cells.

REST is a transcriptional repressor that targets a group of neuronal genes in non-neuronal cells. In embryonic stem (ES) cells, REST has been implicated in controlling the expression of transcription factor genes that are crucial for lineage determination and for maintaining ES cell potential. Here, we asked whether REST directly regulates neural-specifying genes in mouse ES cells using siRNA-mediated REST knockdown and ES cells that lack functional REST protein as a result of gene targeting.

Sex and race differences in mental health symptoms in juvenile justice: the MAYSI-2 national meta-analysis.

Objective: Studies have suggested a high prevalence of mental health symptoms among youths in the juvenile justice system, with the highest prevalence among girls and whites compared to boys and other races. This multisite, archival study examined whether sex and race differences, when they exist, were consistent across U.S.

The impact of chromatin modifiers on the timing of locus replication in mouse embryonic stem cells.

Background: The time of locus replication during S-phase is tightly regulated and correlates with chromatin state. Embryonic stem (ES) cells have an unusual chromatin profile where many developmental regulator genes that are not yet expressed are marked by both active and repressive histone modifications. This poised or bivalent state is also characterized by locus replication in early S-phase in ES cells, while replication timing is delayed in cells with restricted developmental options.

Safety and technical efficacy of over-the-wire balloons for the treatment of subarachnoid hemorrhage-induced cerebral vasospasm.

Object: Over the past decade, low-pressure, flow-directed balloons have been replaced by over-the-wire balloons in the treatment of vasospasm induced by subarachnoid hemorrhage (SAH). The authors assess the procedural safety and technical efficacy of these newer devices.

Methods: Seventy-five patients who underwent 85 balloon angioplasty procedures for the treatment of SAH-induced vasospasm were identified from a prospective quality-assurance database.

Observing S-phase dynamics of histone modifications with fluorescently labeled antibodies.

Histone modifications are central to epigenetic regulation and must be reestablished with each round of DNA replication. Here we describe methods to localize these modifications within mammalian nuclei and to relate them to specific spatiotemporal patterns of DNA replication.

Differential subnuclear localization and replication timing of histone H3 lysine 9 methylation states.

Mono-, di-, and trimethylation of specific histone residues adds an additional level of complexity to the range of histone modifications that may contribute to a histone code. However, it has not been clear whether different methylated states reside stably at different chromatin sites or whether they represent dynamic intermediates at the same chromatin sites. Here, we have used recently developed antibodies that are highly specific for mono-, di-, and trimethylated lysine 9 of histone H3 (MeK9H3) to examine the subnuclear localization and replication timing of chromatin containing these epigenetic marks in mammalian cells.